ClinVar for MedGen (Select 61232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362556	NM_022455.5(NSD1):c.1893del (p.Lys631fs)	NSD1 (K340fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3362553	NM_022455.5(NSD1):c.7959del (p.Ser2654fs)	NSD1 (S2280fs +5 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3341159	NM_022455.5(NSD1):c.3796+1G>A	NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome	GPathogenic
Select item 3341084	NM_022455.5(NSD1):c.70G>T (p.Ala24Ser)	NSD1 (A24S)	Single nucleotide variant (5 prime UTR variant +1 more)	Sotos syndrome	GLikely pathogenic
Select item 3256583	NM_022455.5(NSD1):c.5711C>T (p.Pro1904Leu)	NSD1 (P1613L +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 3253738	NM_022455.5(NSD1):c.4591dup (p.Met1531fs)	NSD1 (M1240fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3242553	NM_022455.5(NSD1):c.1633_1634dup (p.Gln546fs)	NSD1 (Q255fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 3242036	NM_022455.5(NSD1):c.1583del (p.Lys528fs)	NSD1 (K237fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3237461	NM_022455.5(NSD1):c.4096_4097dup (p.Glu1367fs)	NSD1 (E1076fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 3234878	NM_022455.5(NSD1):c.3178C>G (p.Pro1060Ala)	NSD1 (P1060A +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3067829	NM_022455.5(NSD1):c.5503A>G (p.Lys1835Glu)	LOC126807619, NSD1 (K1544E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3065835	NM_022455.5(NSD1):c.1925C>A (p.Ser642Tyr)	NSD1 (S351Y +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3065271	NM_022455.5(NSD1):c.3815A>T (p.Lys1272Ile)	NSD1 (K1021I +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 3065221	NM_022455.5(NSD1):c.2466_2467del (p.Pro823fs)	NSD1 (P532fs +3 more)	Microsatellite (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3064436	NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)	NSD1 (E138G +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3064159	NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)	NSD1 (Q484* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 3062273	NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)	NSD1 (V1090fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3028900	NM_022455.5(NSD1):c.4014del (p.Glu1340fs)	NSD1 (E1049fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3027455	NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)	NSD1 (A1546D +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 3024295	NM_022455.5(NSD1):c.4196del (p.Asn1399fs)	NSD1 (N1108fs +3 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 2692474	NM_022455.5(NSD1):c.6566_6567dup (p.Met2190fs)	NSD1 (M1936fs +5 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 2691013	NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)	NSD1 (H1581Q +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2689617	NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)	NSD1 (S1053N +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2689616	NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)	NSD1 (G479S +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2689615	NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)	NSD1 (V643I +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2664780	NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)	NSD1 (K1196E +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2663942	NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)	NSD1 (E1023* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 2637907	NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)	NSD1 (P1318fs +4 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2627905	NM_022455.5(NSD1):c.5304-2A>G	LOC126807619, NSD1	Single nucleotide variant (splice acceptor variant)	Sotos syndrome	GPathogenic
Select item 2611643	NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)	NSD1 (L1005R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2585504	NM_022455.5(NSD1):c.3577A>G (p.Ser1193Gly)	NSD1 (S1053G +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2585165	NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)	NSD1 (D1741fs +4 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2585159	NM_022455.5(NSD1):c.2428T>C (p.Cys810Arg)	NSD1 (C559R +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2585109	NM_022455.5(NSD1):c.6257dup (p.Asn2087fs)	NSD1 (N2087fs +4 more)	Duplication (frameshift variant +1 more)	Sotos syndrome	GLikely pathogenic
Select item 2584922	NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)	NSD1 (Y1465* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 2584511	NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)	LOC126807619, NSD1 (G1501R +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2584337	NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)	LOC126807619, NSD1 (M1496V +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GPathogenic
Select item 2582645	NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)	NSD1 (P1613S +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2582330	NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)	NSD1 (E1679fs +4 more)	Insertion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 2579146	NM_022455.5(NSD1):c.4766-2A>C	NSD1	Single nucleotide variant (splice acceptor variant)	Sotos syndrome	GUncertain significance
Select item 2578525	NM_022455.5(NSD1):c.7551del (p.Ala2519fs)	NSD1 (A2145fs +5 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2574133	NM_022455.5(NSD1):c.6030del (p.Gly2013fs)	NSD1 (G1722fs +4 more)	Deletion (frameshift variant +1 more)	Sotos syndrome	GPathogenic
Select item 2574132	NM_022455.5(NSD1):c.5390_5397dup (p.Gly1800fs)	LOC126807619, NSD1 (G1509fs +4 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 2574131	NM_022455.5(NSD1):c.2493dup (p.Lys832fs)	NSD1 (K541fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 2574130	NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)	NSD1 (C1352S +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GPathogenic
Select item 2503421	NM_022455.5(NSD1):c.3774delinsCAGCTCACC (p.Gln1259fs)	NSD1 (Q1008fs +3 more)	Indel (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2501551	NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)	NSD1 (H1347R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2500905	NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)	NSD1 (Q1011* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 2500849	NM_022455.5(NSD1):c.3922-9T>A	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GUncertain significance
Select item 2500698	NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)	NSD1 (C1349Y +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GPathogenic
Select item 2500307	NM_022455.5(NSD1):c.3796+1_3796+6del	NSD1	Deletion (splice donor variant)	Sotos syndrome	GPathogenic
Select item 2445623	NM_022455.5(NSD1):c.7241dup (p.Leu2414fs)	NSD1 (L2040fs +5 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2441643	NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)	NSD1 (G1719V +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 2434443	NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)	NSD1 (C324G +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434442	NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)	NSD1 (A2185T +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434441	NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)	NSD1 (I126F +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434440	NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)	NSD1 (G296A +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434439	NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)	NSD1 (A1871T +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2431940	NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)	NSD1 (Q2140* +6 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 2431842	NM_022455.5(NSD1):c.1726_1727del (p.Asn576fs)	NSD1 (N307fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2426758	NC_000005.9:g.(?_176618865)_(177036696_?)dup	B4GALT7, DBN1 +16 more	Duplication	Sotos syndrome	GUncertain significance
Select item 2426757	NC_000005.9:g.(?_176720813)_(176722460_?)del	NSD1	Deletion	Sotos syndrome	GPathogenic
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2424617	NC_000005.9:g.(?_176289625)_(177151363_?)del	B4GALT7, DBN1 +22 more	Deletion	Sotos syndrome	GPathogenic
Select item 2421172	NM_022455.5(NSD1):c.6836C>T (p.Pro2279Leu)	NSD1 (P1905L +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2420475	NM_022455.5(NSD1):c.2930A>G (p.Asn977Ser)	NSD1 (N686S +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 2420017	NM_022455.5(NSD1):c.5147-12T>G	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GLikely benign
Select item 2418744	NM_022455.5(NSD1):c.1467G>C (p.Glu489Asp)	NSD1 (E198D +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GBenign
Select item 2418044	NM_022455.5(NSD1):c.2401G>A (p.Ala801Thr)	NSD1 (A510T +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 2417736	NM_022455.5(NSD1):c.2175_2176inv (p.Ser726Pro)	NSD1 (S435P +4 more)	Inversion (missense variant)	Sotos syndrome	GLikely benign
Select item 2414168	NM_022455.5(NSD1):c.3181A>T (p.Ser1061Cys)	NSD1 (S1061C +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GBenign
Select item 2414109	NM_022455.5(NSD1):c.3771A>G (p.Thr1257=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2318847	NM_022455.5(NSD1):c.3340G>T (p.Val1114Phe)	NSD1 (V974F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2202621	NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)	NSD1 (E336G +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 2202329	NM_022455.5(NSD1):c.3921+18A>G	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GLikely benign
Select item 2201849	NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys)	NSD1 (E1486K +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 2200874	NM_022455.5(NSD1):c.717G>A (p.Lys239=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 2200466	NM_022455.5(NSD1):c.7401G>A (p.Glu2467=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2199402	NM_022455.5(NSD1):c.2417T>C (p.Ile806Thr)	NSD1 (I806T +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 2198011	NM_022455.5(NSD1):c.3819C>T (p.Arg1273=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2197629	NM_022455.5(NSD1):c.951G>A (p.Thr317=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2196243	NM_022455.5(NSD1):c.3155G>A (p.Arg1052His)	NSD1 (R761H +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 2196080	NM_022455.5(NSD1):c.4193-8C>T	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome +1 more	GLikely benign
Select item 2196012	NM_022455.5(NSD1):c.6681G>A (p.Pro2227=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2195434	NM_022455.5(NSD1):c.3133C>T (p.Arg1045Cys)	NSD1 (R1045C +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GBenign
Select item 2194448	NM_022455.5(NSD1):c.757C>G (p.Leu253Val)	NSD1 (L253V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 2192473	NM_022455.5(NSD1):c.2175G>A (p.Thr725=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2189224	NM_022455.5(NSD1):c.487G>A (p.Asp163Asn)	NSD1 (D163N)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 2188451	NM_022455.5(NSD1):c.3348A>G (p.Gln1116=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2185109	NM_022455.5(NSD1):c.2334A>G (p.Leu778=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GBenign
Select item 2184816	NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys)	NSD1 (E782K +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2181895	NM_022455.5(NSD1):c.1812A>T (p.Arg604=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GBenign
Select item 2179245	NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp)	NSD1 (N1082D +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2178655	NM_022455.5(NSD1):c.6464-13T>C	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GLikely benign
Select item 2178623	NM_022455.5(NSD1):c.2853A>C (p.Gly951=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2175374	NM_022455.5(NSD1):c.2026T>C (p.Leu676=)	NSD1	Single nucleotide variant (synonymous variant)	Sotos syndrome	GLikely benign
Select item 2174793	NM_022455.5(NSD1):c.451C>T (p.Leu151=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 2174673	NM_022455.5(NSD1):c.1064-9C>T	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GLikely benign
Select item 2174601	NM_022455.5(NSD1):c.1407C>A (p.Asp469Glu)	NSD1 (D329E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign

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